autosomal dominant nonsyndromic hearing loss 51

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Disease Overview

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


Synonyms

  • DFNA51
  • autosomal dominant deafness 51
  • autosomal dominant nonsyndromic deafness 51
  • autosomal dominant nonsyndromic deafness type 51
  • chromosome 9Q21.11 Duplication syndrome
  • chromosome 9q21.11 duplication syndrome
  • deafness, autosomal dominant 51
  • deafness, autosomal dominant type 51

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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